Dnah5^b2b2395Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah5^b2b2395Clo
• Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 2395 Cecilia Lo
• MGI ID: MGI:5552945
• Synonyms: Peaches
• Gene: Dnah5 Location: Chr15:28203898-28472198 bp, + strand Genetic Position: Chr15, 10.9 cM
• Alliance: Dnah5^b2b2395Clo page

Mutant 2395-006-LB presents with heterotaxy and dextrocardia with levogastria

Show the 18 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at nucleotide +2 after coding nucleotide 7398 (c.7398+2T>A, NM_133365) in intron 44. This changes splice donor site G-GT to G-GA (which is assumed to be inactive). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah5^b2b2395Clo, and may be present in stocks carrying this mutation.

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Dnah5^b2b2395Clo/Dnah5^b2b2395Clo	C57BL/6J-Dnah5^b2b2395Clo

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
cardiovascular system	√
pulmonary artery hypoplasia	√
dual inferior vena cava	√
heart left ventricle hypertrophy	√
heart right ventricle hypertrophy	√
anomalous pulmonary venous connection	√
right atrial isomerism	√
dextrocardia	√
atrioventricular septal defect	√
cellular	√
immotile respiratory cilia	√
craniofacial	√
micrognathia	√
short snout	√
digestive/alimentary system	√
right-sided stomach	√
growth/size/body	√
heart left ventricle hypertrophy	√
heart right ventricle hypertrophy	√
short snout	√
heterotaxia	√
right atrial isomerism	√
right-sided stomach	√
left pulmonary isomerism	√
situs inversus totalis	√
muscle	√
heart left ventricle hypertrophy	√
heart right ventricle hypertrophy	√
renal/urinary system	√
duplex kidney	√
respiratory system	√
immotile respiratory cilia	√
left pulmonary isomerism	√
skeleton	√
micrognathia	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

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disease model

expected model not found

Models:

Human Diseases	hm1
Kartagener syndrome IDs Kartagener syndrome       DOID:0050144 MESH:D007619 NCI:C84797 ORDO:98861 Close	√
primary ciliary dyskinesia 3 IDs primary ciliary dyskinesia 3       DOID:0110599 ICD10CM:Q34.8 OMIM:608644 Close	√
visceral heterotaxy IDs visceral heterotaxy       DOID:0050545 OMIM:PS306955 ORDO:450 Close	√

Expression

In Structures Affected by this Mutation:

12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Dnah5 Mutation: 252 strains or lines available

Notes

Summative Diagnosis:
Heterotaxy including Situs inversus totalis
Cardiovascular Phenotype: Dextrocardia and and complex congenital heart defects associated with heterotaxy, including anomalous systemic venous return, atrioventricular septal defect (AVSD), right atrial isomerism (RAI), biventricular hypertrophy, and hypoplastic pulmonary artery. Also observed are mutants with situs inversus totatlis without congenital heart defects
Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as left lung isomerism, dextrogastria/levogastria, and dual inferior vena cava (IVC). A few mutants exhibited malaligned sternal vertebra, immotile airway cilia and craniofacial anomalies including micrognathia, cleft palate, duplex kidneys, and short snout

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID	Code Description
0100	Situs inversus totalis
0110	Dextrocardia
0190	Heterotaxy syndrome
1100	Atrioventricular canal (endocardial cushion defect)
2810	Inferior vena cava anomaly
2966	Hypoplastic main pulmonary artery
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
3817	Abdominal situs ambiguous (abdominal heterotaxy)
3974	{I,L,I}
3988	{A,L,L}
4100	Skeletal, skin, muscle anomaly
4163	Micrognathia
4200	Respiratory anomaly
4239	Left bronchial isomerism
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4876	Cleft palate
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality
7505	Biventricular hypertrophy

References

• Original: J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 2 reference(s)